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Related Concept Videos

Narcolepsy01:07

Narcolepsy

Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
Sleep-Wake Cycles01:24

Sleep-Wake Cycles

Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
Circadian Rhythms and Gene Regulation02:19

Circadian Rhythms and Gene Regulation

The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent years,...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Related Experiment Video

Updated: May 28, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Published on: December 1, 2017

Familial aggregation of narcolepsy.

Yun-Kwok Wing1, Lei Chen, Siu-Ping Lam

  • 1Department of Psychiatry, The Chinese University of Hong Kong, Shatin, Hong Kong. ykwing@cuhk.edu.hk

Sleep Medicine
|November 1, 2011
PubMed
Summary

Narcolepsy shows significant familial aggregation, with a much higher risk in first-degree relatives than previously thought. A spectrum of narcolepsy features exists, including asymptomatic cases identified by sleep testing.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Measuring Neural Mechanisms Underlying Sleep-Dependent Memory Consolidation During Naps in Early Childhood

Published on: October 2, 2019

Area of Science:

  • Neurology
  • Genetics
  • Sleep Medicine

Background:

  • Narcolepsy is a chronic neurological disorder affecting sleep-wake cycles.
  • Understanding its genetic and familial components is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the familial aggregation of narcolepsy.
  • To analyze clinical symptoms, polysomnography, and HLA typing in relatives of narcolepsy patients.

Main Methods:

  • A family study involving narcolepsy probands, their first-degree relatives, and healthy controls.
  • Participants underwent clinical interviews, polysomnography, multiple sleep latency tests (MSLT), and human leukocyte antigen (HLA) typing.

Main Results:

  • 12.3% of relatives were diagnosed with narcolepsy, and 39.5% exhibited narcolepsy spectrum features.
  • The relative risk of narcolepsy in first-degree relatives was significantly elevated (361.8).
  • Familial aggregation was observed for narcolepsy symptoms, excessive daytime sleepiness, HLA status, and abnormal sleep study findings.

Conclusions:

  • The familial risk for narcolepsy is substantially higher among first-degree relatives than previously reported.
  • A wide spectrum of narcolepsy features, including subclinical cases, exists within families.